ALG8-CDG

From BugSigDB


A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
Aliases
  • ALG8-CDG
  • ALG8-CDG (CDG-Ih)
  • Carbohydrate deficient glycoprotein syndrome type Ih
  • carbohydrate deficient glycoprotein syndrome type Ih
  • CDG 1H
  • CDG Ih
  • CDG syndrome type Ih
  • CDG-Ih
  • CDG1H
  • Congenital disorder of glycosylation type 1h
  • congenital disorder of glycosylation type 1h
  • Congenital disorder of glycosylation type Ih
  • congenital disorder of glycosylation type Ih
  • congenital disorder of glycosylation, type Ih
  • Glucosyltransferase 2 deficiency
  • glucosyltransferase 2 deficiency